The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to alter MITF’s genome occupancy, potentially influencing pathways involved in susceptibility to melanoma.1
The initial study from Bertolotto et al1 reported that this variant increases the risk of renal cell carcinoma (RCC) (OR 5.19, 95% CI 1.37 to 16.87, n=5/164) and both RCC and melanoma (OR 14.46, 95% CI 3.74 to 48.04, n=5/62) in a French clinic-based series of patients with both melanoma and RCC. Ghiorzo et al2 highlighted a potential association with histological subtypes and suggested that MITF may predispose to pancreatic cancer and melanoma as well as other cancers, including RCC. Hubert et al3 suggested that MITF is one of the genes in which pathogenic variants were identified in patients affected by both malignant melanoma and RCC…
